Found: 39
Select item for more details and to access through your institution.
Efficacy of Self-Review of Lifestyle Behaviors with Once-Weekly Glycated Albumin Measurement in People with Type 2 Diabetes: A Randomized Pilot Study.
- Published in:
- Diabetes Therapy, 2024, v. 15, n. 7, p. 1561, doi. 10.1007/s13300-024-01599-2
- By:
- Publication type:
- Article
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm.
- Published in:
- Human Genetics, 2023, v. 142, n. 10, p. 1451, doi. 10.1007/s00439-023-02591-9
- By:
- Publication type:
- Article
Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 8, p. 1301, doi. 10.1093/hmg/ddac286
- By:
- Publication type:
- Article
Development of information dissemination methods that contribute to improving maternal and child healthcare using social networking sites: a community-based cross-sectional study in Japan.
- Published in:
- 2022
- By:
- Publication type:
- journal article
A questionnaire survey on a feeling of loneliness of the mothers raising children.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2021, v. 47, n. 12, p. 4298, doi. 10.1111/jog.15039
- By:
- Publication type:
- Article
1265-PUB: Basic Carbohydrate Counting in Patients with Type 2 Diabetes: Improvement in Glycemic Control and Effects on Body Compositions.
- Published in:
- Diabetes, 2021, v. 70, p. N.PAG, doi. 10.2337/db21-1265-PUB
- By:
- Publication type:
- Article
Disparity of Cervical Cancer Risk in Young Japanese Women: Bipolarized Status of HPV Vaccination and Cancer Screening.
- Published in:
- Vaccines, 2021, v. 9, n. 3, p. 280, doi. 10.3390/vaccines9030280
- By:
- Publication type:
- Article
Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 5, p. 1, doi. 10.1371/journal.pgen.1008826
- By:
- Publication type:
- Article
Induced pluripotent stem cell‐derived melanocyte precursor cells undergoing differentiation into melanocytes.
- Published in:
- Pigment Cell & Melanoma Research, 2019, v. 32, n. 5, p. 623, doi. 10.1111/pcmr.12779
- By:
- Publication type:
- Article
De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.
- Published in:
- Human Mutation, 2018, v. 39, n. 8, p. 1070, doi. 10.1002/humu.23550
- By:
- Publication type:
- Article
Congenital Cytomegalovirus Infection in Children with Autism Spectrum Disorder: Systematic Review and Meta-Analysis.
- Published in:
- Journal of Autism & Developmental Disorders, 2018, v. 48, n. 5, p. 1483, doi. 10.1007/s10803-017-3412-x
- By:
- Publication type:
- Article
Clinical features predicting group A streptococcal pharyngitis in a Japanese paediatric primary emergency medical centre.
- Published in:
- Journal of International Medical Research, 2018, v. 46, n. 5, p. 1791, doi. 10.1177/0300060517752954
- By:
- Publication type:
- Article
Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin Deposits.
- Published in:
- Respiration, 2018, v. 95, n. 2, p. 166, doi. 10.1159/000484209
- By:
- Publication type:
- Article
The Generation of Human γδT Cell-Derived Induced Pluripotent Stem Cells from Whole Peripheral Blood Mononuclear Cell Culture.
- Published in:
- Stem Cells Translational Medicine, 2018, v. 7, n. 1, p. 34, doi. 10.1002/sctm.17-0021
- By:
- Publication type:
- Article
An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Changes in the numbers of patients with acute gastroenteritis after voluntary introduction of the rotavirus vaccine in a Japanese children's primary emergency medical center.
- Published in:
- Environmental Health & Preventive Medicine, 2017, v. 22, n. 1, p. 1, doi. 10.1186/s12199-017-0638-3
- By:
- Publication type:
- Article
Female X-linked Alport syndrome with somatic mosaicism.
- Published in:
- Clinical & Experimental Nephrology, 2017, v. 21, n. 5, p. 877, doi. 10.1007/s10157-016-1352-y
- By:
- Publication type:
- Article
Evaluation of BiliCare™ transcutaneous bilirubin device in Japanese newborns.
- Published in:
- Pediatrics International, 2017, v. 59, n. 10, p. 1058, doi. 10.1111/ped.13364
- By:
- Publication type:
- Article
Involvement of WNT Signaling in the Regulation of Gestational Age-Dependent Umbilical Cord-Derived Mesenchymal Stem Cell Proliferation.
- Published in:
- Stem Cells International, 2017, p. 1, doi. 10.1155/2017/8749751
- By:
- Publication type:
- Article
Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.
- Published in:
- Neurology & Clinical Neuroscience, 2017, v. 5, n. 4, p. 131, doi. 10.1111/ncn3.12132
- By:
- Publication type:
- Article
Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.
- Published in:
- Clinical & Experimental Nephrology, 2017, v. 21, n. 1, p. 136, doi. 10.1007/s10157-016-1256-x
- By:
- Publication type:
- Article
Gestational age-dependency of height and body mass index trajectories during the first 3 years in Japanese small-for-gestational age children.
- Published in:
- Scientific Reports, 2016, p. 38659, doi. 10.1038/srep38659
- By:
- Publication type:
- Article
X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.
- Published in:
- Clinical & Experimental Nephrology, 2016, v. 20, n. 5, p. 699, doi. 10.1007/s10157-015-1197-9
- By:
- Publication type:
- Article
Identification of mutations in FN1 leading to glomerulopathy with fibronectin deposits.
- Published in:
- Pediatric Nephrology, 2016, v. 31, n. 9, p. 1459, doi. 10.1007/s00467-016-3368-7
- By:
- Publication type:
- Article
Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate.
- Published in:
- Pediatrics International, 2016, v. 58, n. 7, p. 651, doi. 10.1111/ped.12907
- By:
- Publication type:
- Article
Prevalence of small for gestational age (SGA) and short stature in children born SGA who qualify for growth hormone treatment at 3 years of age: Population-based study.
- Published in:
- Pediatrics International, 2016, v. 58, n. 5, p. 372, doi. 10.1111/ped.12859
- By:
- Publication type:
- Article
Transcutaneous bilirubin monitoring predicts unexplained late-onset hemolysis in a very low birthweight infant.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
A Novel PIGN Mutation and Prenatal Diagnosis of Inherited Glycosylphosphatidylinositol Deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 183, doi. 10.1002/ajmg.a.37397
- By:
- Publication type:
- Article
Association of HMOX1 gene promoter polymorphisms with hyperbilirubinemia in the early neonatal period.
- Published in:
- Pediatrics International, 2015, v. 57, n. 4, p. 645, doi. 10.1111/ped.12591
- By:
- Publication type:
- Article
Japanese case of oculodentodigital dysplasia caused by a mutation in the GJA1 gene.
- Published in:
- Journal of Dermatology, 2014, v. 41, n. 12, p. 1109, doi. 10.1111/1346-8138.12656
- By:
- Publication type:
- Article
Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0055-x
- By:
- Publication type:
- Article
Screening of genes involved in chromosome segregation during meiosis I: in vitro gene transfer to mouse fetal oocytes.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 8, p. 515, doi. 10.1038/jhg.2012.61
- By:
- Publication type:
- Article
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.
- Published in:
- Nature, 2011, v. 478, n. 7367, p. 127, doi. 10.1038/nature10456
- By:
- Publication type:
- Article
Screening of genes involved in chromosome segregation during meiosis I: toward the identification of genes responsible for infertility in humans.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 5, p. 293, doi. 10.1038/jhg.2010.26
- By:
- Publication type:
- Article
Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 4, p. 621, doi. 10.1093/hmg/ddn387
- By:
- Publication type:
- Article
Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in α-dystroglycanopathies.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 8, p. 1279, doi. 10.1093/hmg/ddl045
- By:
- Publication type:
- Article
Fukuyama-type congenital muscular dystrophy (FCMD) and α-dystroglycanopathy.
- Published in:
- Congenital Anomalies, 2003, v. 43, n. 2, p. 97, doi. 10.1111/j.1741-4520.2003.tb01033.x
- By:
- Publication type:
- Article
Deletion of the long arm of chromosome 2 (2q22-q24.2): Case report and review of the literature.
- Published in:
- Pediatrics International, 2000, v. 42, n. 5, p. 582, doi. 10.1046/j.1442-200x.2000.01262.x
- By:
- Publication type:
- Article
Fukuyama-type congenital muscular dystrophy (FCMD) and oc-dystroglycanopathy.
- Published in:
- Clinical Genetics, 1993, v. 43, n. 2, p. 97, doi. 10.1111/j.1399-0004.1993.tb04427.x
- By:
- Publication type:
- Article